Revel Score:
ENST00000155840 (MANE Select)
0.829
ENST00000335475
0.829
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.2778003C>G , CM000673.2:g.2778003C>G | GRCh38 |
| NC_000011.9:g.2799233C>G , CM000673.1:g.2799233C>G | GRCh37 |
| NC_000011.8:g.2755809C>G | NCBI36 |
| NG_008935.1:g.338013C>G , LRG_287:g.338013C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000496887.7:c.1403C>G | ENSP00000434560.2:p.Thr468Arg | |
| ENST00000646564.2:c.1220C>G | ENSP00000495806.2:p.Thr407Arg | |
| ENST00000155840.12:c.1760C>G MANE Select | ENSP00000155840.2:p.Thr587Arg | |
| ENST00000335475.6:c.1379C>G | ENSP00000334497.5:p.Thr460Arg | |
| ENST00000526095.2:c.164C>G | ENSP00000494939.1:p.Thr55Arg | |
| ENST00000646564.1:c.866C>G | ENSP00000495806.1:p.Thr289Arg | |
| ENST00000155840.9:c.1760C>G | ENSP00000155840.2:p.Thr587Arg | |
| ENST00000335475.5:c.1379C>G | ENSP00000334497.5:p.Thr460Arg | |
| ENST00000526095.1:n.267C>G | ||
| NM_000218.2:c.1760C>G , LRG_287t1:c.1760C>G | NP_000209.2:p.Thr587Arg | |
| NM_181798.1:c.1379C>G , LRG_287t2:c.1379C>G | NP_861463.1:p.Thr460Arg | |
| NM_000218.3:c.1760C>G MANE Select | NP_000209.2:p.Thr587Arg |